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Susan Byrne

department of clinical genetics and department of neurology

41H-index
148Paper Count
7.0KCitation Count
Published Papers 51
Publication Date
LONP1 Variants Are Associated With Clinically Diverse Phenotypes
err2025-09-10
err0
PREAI
errRandee E. Young; Lu Qiao; Rebecca Hernan; David A. Sweetser; Jessica L. Waxler; Daryl A. Scott; Tiana M. Scott; Seema R. Lalani; Mahshid S. Azamian; Jill A. Rosenfeld; Bret Bostwick; Lindsay C. Burrage; Undiagnosed Diseases Network; Lance H. Rodan; Bianca E. Russell; Marina Dutra-Clarke; Michael Kruer; Somayeh Bakhtiarim; Hossein Darvish; David J. Amor; Shamima Rahman; Karen Stals; Lisa Bradley; Susan Byrne; Leandra K. Tolusso; Beatrix Wong; Laura Benedict; Kimberly Wallis; Kestutis Micke; Cindy Colson; Thomas Smol; Sabrina V. Southwick; Kristen A. Miller; Michelle L. Kush; Odelia Chorin; Annick Rothschild; Wei Wang; Yufeng Shen; Wendy K. Chung
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Neurology Undergraduate Medical Education: A Scoping Review
err2025-03-13
err0
errOAAI
errMcelligott, L.; Ardilouze, A.; Moloney, J.; Elsheikhid, A.; Healy, C.; Leahy, H.; Babatunde, K.; Cahir, C.; Murphy, P.; Delanty, N.; Mcelvaney, N.; Byrne, S.; Mcgovern, E.
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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
err2025-02-01
err0
errOAAI
errLessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor
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Association between gut microbiota development and allergy in infants born during pandemic-related social distancing restrictions
err2024-02-29
err7
errOAAI
errKorpela, Katri; Hurley, Sadhbh; Ford, Sinead Ahearn; Franklin, Ruth; Byrne, Susan; Lunjani, Nonhlanhla; Forde, Brian; Neogi, Ujjwal; Venter, Carina; Walter, Jens; Hourihane, Jonathan; O'Mahony, Liam
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Case report: Varicella associated neuropsychiatric syndrome (VANS) in two pediatric cases
err2023-03-01
err3
errOAAI
errDahiya, Devika; Matos, Claudia Marques; Lim, Ming; Madureira, Ines; Duarte, Sofia; Byrne, Susan; Rossor, Thomas
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Allergy-related outcomes at 12 months in the CORAL birth cohort of Irish children born during the first COVID 19 lockdown
err2022-03-25
err15
errOAAI
errHurley, Sadhbh; Franklin, Ruth; McCallion, Naomi; Byrne, Aideen M.; Fitzsimons, John; Byrne, Susan; White, Martin; O'Mahony, Liam; Hourihane, Jonathan O'B
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The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy
errAUTOPHAGY
IF14.3
err2021-08-19
err37
errOAAI
errDeneubourg, Celine; Ramm, Mauricio; Smith, Luke J.; Baron, Olga; Singh, Kritarth; Byrne, Susan C.; Duchen, Michael R.; Gautel, Mathias; Eskelinen, Eeva-Liisa; Fanto, Manolis; Jungbluth, Heinz
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Use of Disease-Modifying Therapies in Pediatric Relapsing-Remitting Multiple Sclerosis in the United Kingdom
err2021-07-01
err19
errOAAI
errAbdel-mannan, Omar A.; Manchoon, Celeste; Rossor, Thomas; Southin, Justine-Clair; Tur, Carmen; Brownlee, Wallace; Byrne, Susan; Chitre, Manali; Coles, Alasdair; Forsyth, Rob; Kneen, Rachel; Mankad, Kshitij; Ram, Dipak; West, Siobhan; Wright, Sukhvir; Wassmer, Evangeline; Lim, Ming; Ciccarelli, Olga; Hemingway, Cheryl; Hacohen, Yael
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Systemic Inflammation Is Associated With Neurologic Involvement in Pediatric Inflammatory Multisystem Syndrome Associated With SARS-CoV-2
err2021-07-01
err22
errOAAI
errSa, Mario; Mirza, Luwaiza; Carter, Michael; Carlton Jones, Lalani; Gowda, Vasantha; Handforth, Jennifer; Hedderly, Tammy; Kenny, Julia; Lascelles, Karine; Lin, Jean-Pierre; Lumsden, Daniel; McDougall, Marilyn; Miller, Owen; Rossor, Thomas; Shivamurthy, Vinay; Siddiqui, Ata; Singh, Rahul; Tang, Shan; White, Marie; Byrne, Susan; Lim, Ming
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Precision therapy in the genetic epilepsies of childhood
err2021-06-04
err15
errOAAI
errByrne, Susan; Enright, Noelle; Delanty, Norman
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Pediatric Ischemic Stroke: An Infrequent Complication of SARS-CoV-2
err2021-01-28
err78
PREAI
errBeslow, Lauren A.; Linds, Alexandra B.; Fox, Christine K.; Kossorotoff, Manoelle; Zuniga Zambrano, Yenny C.; Hernandez-Chavez, Marta; Hassanein, Sahar M. A.; Byrne, Susan; Lim, Ming; Maduaka, Nkechi; Zafeiriou, Dimitrios; Dowling, Michael M.; Felling, Ryan J.; Rafay, Mubeen F.; Lehman, Laura L.; Noetzel, Michael J.; Bernard, Timothy J.; Dlamini, Nomazulu
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Catatonic features in children and adolescents with N-methyl-D-aspartate receptor antibody encephalitis
err2020-07-06
err6
errOAAI
errEyre, Michael; Kaushik, Anya; Barrett, Elizabeth; King, Mary D.; Pollak, Thomas; Dale, Russell C.; Byrne, Susan; Lim, Ming
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A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability
err2020-04-01
err37
errOAAI
errBenson, Katherine A.; White, Maire; Allen, Nicholas M.; Byrne, Susan; Carton, Robert; Comerford, Elizabeth; Costello, Daniel; Doherty, Colin; Dunleavey, Brendan; El-Naggar, Hany; Gangadharan, Nisha; Heavin, Sinead; Kearney, Hugh; Lench, Nicholas J.; Lynch, John; McCormack, Mark; O'Regan, Mary; Podesta, Karl; Power, Kevin; Rogers, Anthony S.; Steward, Charles A.; Sweeney, Brian; Webb, David; Fitzsimons, Mary; Greally, Marie; Delanty, Norman; Cavalleri, Gianpiero L.
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Antiapoptotic serine protease inhibitors contribute to survival of allergenic TH2 cells
err2018-08-01
err14
errOAAI
errShamji, Mohamed H.; Temblay, Jeff N.; Cheng, Wei; Byrne, Susan M.; Macfarlane, Ellen; Switzer, Amy R.; Francisco, Natalia D. C.; Olexandra, Fedina; Jacubczik, Fabian; Durham, Stephen R.; Ashton-Rickardt, Philip G.
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Clinical presentation and prognostic indicators in 100 adults and children with neurofibromatosis 1 associated non-optic pathway brain gliomas
err2017-06-07
err25
errOAAI
errByrne, Susan; Connor, Steve; Lascelles, Karine; Siddiqui, Ata; Hargrave, Darren; Ferner, Rosalie E.
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An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities
err2016-07-05
err33
errOAAI
errLopez, Ruben J.; Byrne, Susan; Vukcevic, Mirko; Sekulic-Jablanovic, Marijana; Xu, Lifen; Brink, Marijke; Alamelu, Jay; Voermans, Nicol; Snoeck, Marc; Clement, Emma; Muntoni, Francesco; Zhou, Haiyan; Radunovic, Aleksandar; Mohammed, Shehla; Wraige, Elizabeth; Zorzato, Francesco; Treves, Susan; Jungbluth, Heinz
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Reply: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome
errBRAIN
IF11.7
err2016-06-24
err3
errOAAI
errByrne, Susan; Cullup, Thomas; Fanto, Manolis; Gautel, Mathias; Jungbluth, Heinz
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Vici syndrome: a review
err2016-02-29
err54
errOAAI
errByrne, Susan; Dionisi-Vici, Carlo; Smith, Luke; Gautel, Mathias; Jungbluth, Heinz
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EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
errBRAIN
IF11.7
err2016-02-25
err94
errOAAI
errByrne, Susan; Jansen, Lara; U-King-Im, Jean-Marie; Siddiqui, Ata; Lidov, Hart G. W.; Bodi, Istvan; Smith, Luke; Mein, Rachael; Cullup, Thomas; Dionisi-Vici, Carlo; Al-Gazali, Lihadh; Al-Owain, Mohammed; Bruwer, Zandre; Al Thihli, Khalid; El-Garhy, Rana; Flanigan, Kevin M.; Manickam, Kandamurugu; Zmuda, Erik; Banks, Wesley; Gershoni-Baruch, Ruth; Mandel, Hanna; Dagan, Efrat; Raas-Rothschild, Annick; Barash, Hila; Filloux, Francis; Creel, Donnell; Harris, Michael; Hamosh, Ada; Koelker, Stefan; Ebrahimi-Fakhari, Darius; Hoffmann, Georg F.; Manchester, David; Boyer, Philip J.; Manzur, Adnan Y.; Lourenco, Charles Marques; Pilz, Daniela T.; Kamath, Arveen; Prabhakar, Prab; Rao, Vamshi K.; Rogers, R. Curtis; Ryan, Monique M.; Brown, Natasha J.; McLean, Catriona A.; Said, Edith; Schara, Ulrike; Stein, Anja; Sewry, Caroline; Travan, Laura; Wijburg, Frits A.; Zenker, Martin; Mohammed, Shehla; Fanto, Manolis; Gautel, Mathias; Jungbluth, Heinz
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Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism
errBRAIN
IF11.7
err2015-12-29
err124
errOAAI
errEbrahimi-Fakhari, Darius; Saffari, Afshin; Wahlster, Lara; Lu, Jenny; Byrne, Susan; Hoffmann, Georg F.; Jungbluth, Heinz; Sahin, Mustafa
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